Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2573087098

Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1337713

ClinVar RCV Id: RCV001820727

ClinVar Variation Id: 2755845

ClinVar RCV Id: RCV003597023

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.His283Gln	CA402463501 NM_005359.6:c.849C>A CA402463502 NM_005359.6:c.849C>G